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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCM3AP, MCM3AP-AS1
(A1795T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
MCM3AP, MCM3AP-AS1
(G1579E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MCM3AP, MCM3AP-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MCM3AP, MCM3AP-AS1
(V1387fs)
Deletion
(non-coding transcript variant +1 more)
MCM3AP-related disorder
GLikely pathogenic
MCM3AP
(R1314W)
Single nucleotide variant
(missense variant)
MCM3AP-related disorder
+1 more
GLikely benign
MCM3AP
(Q1159fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
MCM3AP
(V1062M)
Single nucleotide variant
(missense variant)
MCM3AP-related disorder
+1 more
GBenign
MCM3AP
Single nucleotide variant
(synonymous variant)
MCM3AP-related disorder
+1 more
GLikely benign
MCM3AP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MCM3AP
(L945V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MCM3AP
(R906H)
Single nucleotide variant
(missense variant)
MCM3AP-related disorder
+1 more
GBenign
MCM3AP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MCM3AP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MCM3AP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MCM3AP
Single nucleotide variant
(synonymous variant)
MCM3AP-related disorder
+1 more
GLikely benign
MCM3AP
(R333L)
Single nucleotide variant
(missense variant)
MCM3AP-related disorder
+2 more
GLikely benign
MCM3AP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MCM3AP
(M288V)
Single nucleotide variant
(missense variant)
MCM3AP-related disorder
+1 more
GBenign
MCM3AP
(V278F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
MCM3AP
Single nucleotide variant
(synonymous variant)
MCM3AP-related disorder
+1 more
GBenign/Likely benign
MCM3AP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MCM3AP
(K28Q)
Single nucleotide variant
(missense variant)
MCM3AP-related disorder
+2 more
GConflicting classifications of pathogenicity
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